Sarcoglycan Antibodies

In normal skeletal muscle, dystrophin, the protein product of the gene which is defective in Duchenne and Becker muscular dystrophy, is attached to the muscle membrane via a complex of proteins (dystrophin-associated glycoproteins, DAG’s). Dystrophin-deficient muscle shows a generalized reduction in DAG labeling. The expression of different members of the dystrophin glycoprotein complex is altered in several types of muscular dystrophy. For example, patients with LGMD2D have mutations in the gene for alpha-sarcoglycan, those with LGM2E have mutations in the beta-sarcoglycan gene, those with LGM2C have mutations in the gamma-sarcoglycan gene and those with LGM2F have mutations in the delta-sarcoglycan gene. As the sarcoglycans function together as a sub-complex, mutations in any one of the sarcoglycan genes usually results in variable expression for the whole group.